Publications by authors named "Bernd C Schwahn"

19Publications

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Int J Mol Sci 2018 Mar 28;19(4). Epub 2018 Mar 28.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms19041010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369PMC
March 2018

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

JAMA Neurol 2014 Jul;71(7):901-4

Hebrew University-Hadassah School of Medicine, Jerusalem, Israel12Department of Child and Adolescent Psychiatry, Jerusalem Mental Health Center, Eitanim Psychiatric Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jamaneurol.2014.116DOI Listing
July 2014

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

BMC Endocr Disord 2014 Apr 28;14:38. Epub 2014 Apr 28.

Paediatric Endocrinology Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, G3 8SJ Glasgow, UK.

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http://dx.doi.org/10.1186/1472-6823-14-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013055PMC
April 2014

Osmotic regulation of hepatic betaine metabolism.

Am J Physiol Gastrointest Liver Physiol 2013 May 28;304(9):G835-46. Epub 2013 Feb 28.

Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University, Duesseldorf, Germany.

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http://dx.doi.org/10.1152/ajpgi.00332.2012DOI Listing
May 2013

Expanded newborn screening identifies maternal primary carnitine deficiency.

Mol Genet Metab 2007 Apr 28;90(4):441-5. Epub 2006 Nov 28.

University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.10.003DOI Listing
April 2007

Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase.

Int J Dev Neurosci 2005 Aug;23(5):465-74

Departments of Human Genetics, Pediatrics and Biology, McGill University and Montreal Children's Hospital Research Institute, 4060 Ste. Catherine West, Room 200, Montreal, Que., Canada H3Z 2Z3.

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http://dx.doi.org/10.1016/j.ijdevneu.2005.05.007DOI Listing
August 2005

Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation.

Biol Reprod 2005 Mar 17;72(3):667-77. Epub 2004 Nov 17.

Department of Pediatrics, McGill University and the Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada.

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https://academic.oup.com/biolreprod/article-lookup/doi/10.10
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http://dx.doi.org/10.1095/biolreprod.104.035238DOI Listing
March 2005

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.

Biochem J 2004 Sep;382(Pt 3):831-40

Department of Pediatrics, Human Genetics and Biology, McGill University-Montreal Children's Hospital, Montreal, Canada.

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http://dx.doi.org/10.1042/BJ20040822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1133958PMC
September 2004

Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.

Metabolism 2004 May;53(5):594-9

Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montrreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.metabol.2003.10.033DOI Listing
May 2004

Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.

Br J Clin Pharmacol 2003 Jan;55(1):6-13

Department of Paediatrics, Medical Faculty, Heinrich-Heine-University, Moorenstrasse 5, D-40225 Düsseldorf, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1884185PMC
http://dx.doi.org/10.1046/j.1365-2125.2003.01717.xDOI Listing
January 2003